Variant report

Variant	rs9496933
Chromosome Location	chr6:144650109-144650110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144649280..144650903-chr8:128320758..128322751,2	MCF-7	breast:
2	chr6:144619076..144621180-chr6:144649818..144652128,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11970041	0.91[AMR][1000 genomes]
rs12178630	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17073670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2223428	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2328570	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28737224	0.91[AMR][1000 genomes]
rs6570620	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6570621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6902637	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6905106	1.00[ASN][1000 genomes]
rs6932679	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7768531	0.91[AFR][1000 genomes]
rs9321971	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484865	1.00[ASN][1000 genomes]
rs9484866	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9484867	1.00[ASN][1000 genomes]
rs9484868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484869	0.91[AMR][1000 genomes]
rs9484870	0.91[AMR][1000 genomes]
rs9496924	1.00[ASN][1000 genomes]
rs9496929	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496934	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496939	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496940	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496941	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496942	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496946	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496947	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144635000-144651000	Weak transcription	Small Intestine	intestine
2	chr6:144635600-144650800	Weak transcription	Aorta	Aorta
3	chr6:144636000-144656200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:144636600-144654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:144636800-144650800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:144636800-144654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:144636800-144656400	Weak transcription	Brain Substantia Nigra	brain
8	chr6:144637000-144651800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:144639600-144660200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:144642200-144654800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:144642200-144655200	Weak transcription	Thymus	Thymus
12	chr6:144642200-144659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:144643200-144651600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:144643600-144651200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:144643600-144652600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:144643600-144656400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:144643800-144652000	Weak transcription	HSMM	muscle
18	chr6:144643800-144663000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:144644400-144652600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:144644400-144652600	Weak transcription	NHDF-Ad	bronchial
21	chr6:144646200-144651400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:144646400-144655200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:144646800-144652000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:144646800-144654600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:144647000-144650600	Weak transcription	Fetal Intestine Small	intestine
26	chr6:144647800-144651800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:144647800-144651800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:144648200-144652800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:144648200-144661200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:144648400-144651000	Weak transcription	Gastric	stomach
31	chr6:144648600-144650800	Weak transcription	Fetal Brain Female	brain
32	chr6:144648600-144652200	Weak transcription	NHLF	lung
33	chr6:144648800-144650600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:144648800-144650800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:144648800-144651000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:144648800-144651000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:144648800-144651000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:144648800-144651000	Weak transcription	Psoas Muscle	Psoas
39	chr6:144648800-144651200	Weak transcription	Right Ventricle	heart
40	chr6:144648800-144651800	Weak transcription	HSMMtube	muscle
41	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
42	chr6:144649000-144650800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:144649000-144651000	Weak transcription	Fetal Kidney	kidney
44	chr6:144649200-144650400	Weak transcription	Fetal Thymus	thymus
45	chr6:144649200-144650600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:144649200-144650600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:144649200-144650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:144649200-144650600	Weak transcription	Fetal Lung	lung
49	chr6:144649200-144650800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:144649200-144650800	Weak transcription	Pancreas	Pancrea

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